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Postnatal cytogenetic analysis refers to the karyotyping of samples derived from a variety of tissues: peripheral blood, bone marrow and skin fibroblast.

With a blood sample as small as 0.2 - 0.5 ml, it is possible to set up a suspension culture from which it is easy to obtain enough mitoses to study the karyotype of a subject. After 48 to 96 hours of culture, metaphase chromosomes are harvested and slides prepared for chromosome analysis 4,5.
Chromosome analysis may be performed for several indications, including: multiple congenital anomalies in a patient; couples with a history of spontaneous miscarriages; individuals with ambiguous genitalia, infertility, or amenorrhea; patients with a family history of chromosomal abnormalities; patients with a suspected chromosomal syndrome, and families with male predominant mental retardation.
Moreover chromosome analysis for haematological disorders of leukemic blood cells are performed to identify specific chromosome rearrangements. These rearrangements in neoplastic cells are often correlated to specific types of leukemia or myelodysplasias. This information helps the clinician in making a diagnosis, predicting a prognosis, and eventually prescribing a therapy.